Jie QIAO (China)
Jie Qiao, is Academician of Chinese academy of engineering, President and Chief Physician of Peking University Third Hospital. She has been working on reproductive biology and the pathology of infertility since 1990 and her reproductive research focus on the molecular mechanism of human gametogenesis and embryo development, infertility causes and clinical treatments, the protection and preservation of female fertility as well as assessing the safety of assisted reproductive technology and developing new pre-implantation diagnosis methods. Dr. Qiao’s team made many landmark contributions to the development of reproductive medicine. Her team award “National Prize for Progress in Science and Technology ”(Second Prize)，“Progress Prize in Science and Technology of Education Ministry” (First Prize) and approved “National Clinical Research Center for Obstetrics & gynecology”and etc. She has published 192 SCI papers as the first or corresponding author, including Cell, JAMA, Nature, Lancet, Nature Genetics etc, providing new insights into the mechanism of epigenetic regulation during embryonic development.
Abstract
Clinical Advances in Diagnosis and Treatment of Single Gene Diseases
China has a large population and high incidence of infertility and birth defects. More than 30 million people across the country suffer from infertility diseases. Every year, about 900,000 new birth defects are added. Increasing number of families is under great mental and economic pressure. Besides, it brings great difficulties to the quality and structure optimization of the national population.
PGD/PGS is one of the most preferred measures to prevent the birth defects. Prof. Qiao’s team has promoted the clinical application of Single Nucleotide Polymorphisms (SNP) array and array-based Comparative Genomic Hybridization (aCGH) technology in pre-implantation diagnosis (PGD/PGS) for chromosome analysis and has developed a new PGD method for single gene disorders, called mutated allele revealed by sequencing with aneuploidy and linkage analyses (MARSALA). MARSALA-PGD enables simultaneous diagnosis of mutation sites, chromosomal abnormalities, and linkage analysis of embryos, and has been well applied to clinical practice. Until now, thousands of families with rare genetic diseases have entered the MARSALA-PGD process and, after early diagnoses, 60 healthy babies have been born.
With the improvement of the techniques and optimized conditions, scientists are now able to modify human germline genome with very high specificity and efficiency. In recent years, Genome Editing is a widely concerned technology, it has brought great possibilities to treatment of single gene disorder in the early embryonic stage. At the same time, Genome editing as a critical issue associated with social ethics, law, medicine, etc, has always been a controversial issue.